MCID: ANM008
MIFTS: 38

Anemia, Sideroblastic, with Ataxia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Anemia, Sideroblastic, with Ataxia

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Aliases & Descriptions for Anemia, Sideroblastic, with Ataxia:

Name: Anemia, Sideroblastic, with Ataxia 52 12
X-Linked Sideroblastic Anemia and Ataxia 11 23 48 24 25 54
X-Linked Sideroblastic Anemia with Ataxia 11 48 54 13
Sideroblastic Anemia with Spinocerebellar Ataxia 11 48 13
Asat 11 48 70
Anemia, Sideroblastic, and Spinocerebellar Ataxia 52 68
 
Anemia Sideroblastic and Spinocerebellar Ataxia 11 48
Anemia, Sideroblastic, Spinocerebellar Ataxia 70 27
Pagon Bird Detter Syndrome 48 70
Xlsa-a 48 54
Xlsa/a 25

Characteristics:

Orphanet epidemiological data:

54
x-linked sideroblastic anemia and ataxia:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: normal life expectancy

HPO:

64
anemia, sideroblastic, with ataxia:
Inheritance: x-linked recessive inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM52 301310
Disease Ontology11 DOID:0050554, DOID:0060064
Orphanet54 ORPHA2802
UMLS via Orphanet69 C1845028
ICD10 via Orphanet31 D64.0
MedGen37 C1845028

Summaries for Anemia, Sideroblastic, with Ataxia

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UniProtKB/Swiss-Prot:70 Anemia, sideroblastic, spinocerebellar ataxia: A X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis.

MalaCards based summary: Anemia, Sideroblastic, with Ataxia, also known as x-linked sideroblastic anemia and ataxia, is related to sideroblastic anemia and ataxia, and has symptoms including nystagmus, neurological speech impairment and incoordination. An important gene associated with Anemia, Sideroblastic, with Ataxia is ABCB7 (ATP Binding Cassette Subfamily B Member 7), and among its related pathways are Sulfur amino acid metabolism and Pyruvate metabolism. Related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and homeostasis/metabolism.

Genetics Home Reference:25 X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males.

Description from OMIM:52 301310

GeneReviews for NBK1321

Related Diseases for Anemia, Sideroblastic, with Ataxia

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Diseases related to Anemia, Sideroblastic, with Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1sideroblastic anemia10.2
2ataxia10.2
3eyelid degenerative disease10.0ABCB7, MDH2
4atransferrinemia9.9ABCB7, FXN
5bleeding disorder, platelet-type, 199.9ACO1, FXN
6myocardial infarction9.9
7aarskog-scott syndrome9.7ABCB7, ACO1
8lennox-gastaut syndrome9.6ABCB7, ACO1, FXN
9myopathy, congenital, with fiber-type disproportion, x-linked9.0ABCB7, CTC1, MDH1, MDH2

Graphical network of diseases related to Anemia, Sideroblastic, with Ataxia:



Diseases related to anemia, sideroblastic, with ataxia

Symptoms & Phenotypes for Anemia, Sideroblastic, with Ataxia

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Symptoms by clinical synopsis from OMIM:

301310

Clinical features from OMIM:

301310

Human phenotypes related to Anemia, Sideroblastic, with Ataxia:

 64 (show all 20)
id Description HPO Frequency HPO Source Accession
1 nystagmus64 hallmark (90%) HP:0000639
2 neurological speech impairment64 hallmark (90%) HP:0002167
3 incoordination64 hallmark (90%) HP:0002311
4 hyperreflexia64 typical (50%) HP:0001347
5 abnormality of movement64 typical (50%) HP:0100022
6 cognitive impairment64 typical (50%) HP:0100543
7 strabismus64 occasional (7.5%) HP:0000486
8 muscular hypotonia64 occasional (7.5%) HP:0001252
9 intrauterine growth retardation64 occasional (7.5%) HP:0001511
10 scoliosis64 occasional (7.5%) HP:0002650
11 dysarthria64 HP:0001260
12 dysmetria64 HP:0001310
13 sideroblastic anemia64 HP:0001924
14 abnormality of metabolism/homeostasis64 HP:0001939
15 dysdiadochokinesis64 HP:0002075
16 intention tremor64 HP:0002080
17 clonus64 HP:0002169
18 nonprogressive cerebellar ataxia64 HP:0002470
19 babinski sign64 HP:0003487
20 hypochromic microcytic anemia64 HP:0004840

UMLS symptoms related to Anemia, Sideroblastic, with Ataxia:


clonus, action tremor, dysdiadochokinesis

GenomeRNAi Phenotypes related to Anemia, Sideroblastic, with Ataxia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-589.8ABCB7, MDH1, SKI

MGI Mouse Phenotypes related to Anemia, Sideroblastic, with Ataxia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.9ABCB7, ACO1, CTC1, FXN, MDH1, SKI
2MP:00107687.2ABCB7, ACO1, CTC1, FXN, MDH1, SKI

Drugs & Therapeutics for Anemia, Sideroblastic, with Ataxia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461

Search NIH Clinical Center for Anemia, Sideroblastic, with Ataxia

Genetic Tests for Anemia, Sideroblastic, with Ataxia

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Genetic tests related to Anemia, Sideroblastic, with Ataxia:

id Genetic test Affiliating Genes
1 Anemia Sideroblastic and Spinocerebellar Ataxia27
2 X-Linked Sideroblastic Anemia and Ataxia24 ABCB7

Anatomical Context for Anemia, Sideroblastic, with Ataxia

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Publications for Anemia, Sideroblastic, with Ataxia

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Variations for Anemia, Sideroblastic, with Ataxia

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UniProtKB/Swiss-Prot genetic disease variations for Anemia, Sideroblastic, with Ataxia:

70
id Symbol AA change Variation ID SNP ID
1ABCB7p.Ile400MetVAR_009156rs72554634
2ABCB7p.Glu433LysVAR_012640rs80356714
3ABCB7p.Val411LeuVAR_022874rs80356713
4ABCB7p.Glu208AspVAR_067354rs515726147

Clinvar genetic disease variations for Anemia, Sideroblastic, with Ataxia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ABCB7NM_004299.4(ABCB7): c.1203T> G (p.Ile401Met)SNVPathogenicrs72554634GRCh37Chr X, 74291351: 74291351
2ABCB7NM_004299.4(ABCB7): c.1300G> A (p.Glu434Lys)SNVPathogenicrs80356714GRCh37Chr X, 74290268: 74290268
3ABCB7NM_004299.4(ABCB7): c.1234G> C (p.Val412Leu)SNVPathogenicrs80356713GRCh37Chr X, 74290334: 74290334
4ABCB7NM_004299.4(ABCB7): c.627A> T (p.Glu209Asp)SNVPathogenicrs515726147GRCh38Chr X, 75075593: 75075593

Expression for genes affiliated with Anemia, Sideroblastic, with Ataxia

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Search GEO for disease gene expression data for Anemia, Sideroblastic, with Ataxia.

Pathways for genes affiliated with Anemia, Sideroblastic, with Ataxia

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GO Terms for genes affiliated with Anemia, Sideroblastic, with Ataxia

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Cellular components related to Anemia, Sideroblastic, with Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057398.2ABCB7, ACO1, FXN, MDH1, MDH2

Biological processes related to Anemia, Sideroblastic, with Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1gluconeogenesisGO:000609410.0MDH1, MDH2
2malate metabolic processGO:000610810.0MDH1, MDH2
3NADH metabolic processGO:000673410.0MDH1, MDH2
4oxaloacetate metabolic processGO:00061079.9MDH1, MDH2
5cellular iron ion homeostasisGO:00068799.7ABCB7, ACO1, FXN
6tricarboxylic acid cycleGO:00060999.0ACO1, MDH1, MDH2

Molecular functions related to Anemia, Sideroblastic, with Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1L-malate dehydrogenase activityGO:00300609.6MDH1, MDH2
2malate dehydrogenase activityGO:00166159.5MDH1, MDH2

Sources for Anemia, Sideroblastic, with Ataxia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet